Canonical Allele Identifier: CA382441546

Gene: TRPC6

Linked Data

• MyVariant Identifiers: chr11:g.101353754T>A (hg19) ; chr11:g.101483023T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.101483023T>A , CM000673.2:g.101483023T>A	GRCh38
NC_000011.9:g.101353754T>A , CM000673.1:g.101353754T>A	GRCh37
NC_000011.8:g.100858964T>A	NCBI36
NG_011476.1:g.105906A>T
NG_011476.2:g.105906A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000344327.8:c.1436A>T MANE Select	ENSP00000340913.3:p.Asn479Ile
ENST00000344327.7:c.1436A>T	ENSP00000340913.3:p.Asn479Ile
ENST00000348423.8:c.1088A>T	ENSP00000343672.4:p.Asn363Ile
ENST00000360497.4:c.1271A>T	ENSP00000353687.4:p.Asn424Ile
ENST00000532133.5:c.1436A>T	ENSP00000435574.1:p.Asn479Ile
NM_004621.5:c.1436A>T	NP_004612.2:p.Asn479Ile
XM_006718898.2:c.1436A>T	XP_006718961.1:p.Asn479Ile
XM_011542968.1:c.1271A>T	XP_011541270.1:p.Asn424Ile
XM_011542969.1:c.1436A>T	XP_011541271.1:p.Asn479Ile
XM_011542968.3:c.1271A>T	XP_011541270.1:p.Asn424Ile
XM_017018221.2:c.1088A>T	XP_016873710.1:p.Asn363Ile
XR_001747948.2:n.1792A>T
NM_004621.6:c.1436A>T MANE Select	NP_004612.2:p.Asn479Ile